ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.1651T>A (p.Ser551Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004730166 SCV005338035 uncertain significance DYNC2H1-related disorder 2024-09-16 no assertion criteria provided clinical testing The DYNC2H1 c.1651T>A variant is predicted to result in the amino acid substitution p.Ser551Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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